Canonical Allele Identifier: CA368183888
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171658
ClinVar RCV Id: RCV003088915

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504857G>A , CM000669.2:g.92504857G>A GRCh38
NC_000007.13:g.92134171G>A , CM000669.1:g.92134171G>A GRCh37
NC_000007.12:g.91972107G>A NCBI36
NG_008341.1:g.28675C>T
NG_008341.2:g.28675C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1946C>T MANE Select ENSP00000248633.4:p.Ser649Leu
ENST00000248633.8:c.1946C>T ENSP00000248633.4:p.Ser649Leu
ENST00000428214.5:c.1900+1391C>T ENSP00000394413.1:n.1900+1391C>T
ENST00000438045.5:c.980C>T ENSP00000410438.1:p.Ser327Leu
ENST00000484913.5:n.1985C>T
ENST00000496420.5:n.1622C>T
NM_000466.2:c.1946C>T NP_000457.1:p.Ser649Leu
NM_001282677.1:c.1900+1391C>T NP_001269606.1:n.1900+1391C>T
NM_001282678.1:c.1322C>T NP_001269607.1:p.Ser441Leu
XM_005250433.3:c.197C>T XP_005250490.1:p.Ser66Leu
XR_242246.3:n.2042C>T
XM_017012319.2:c.197C>T XP_016867808.1:p.Ser66Leu
XR_001744808.2:n.973C>T
XR_242246.5:n.1993C>T
NM_000466.3:c.1946C>T MANE Select NP_000457.1:p.Ser649Leu
NM_001282677.2:c.1900+1391C>T NP_001269606.1:n.1900+1391C>T
NM_001282678.2:c.1322C>T NP_001269607.1:p.Ser441Leu